The nephronophthisis complex View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1982-01

AUTHORS

R. Waldherr, T. Lennert, H. -P. Weber, H. J. Födisch, K. Schärer

ABSTRACT

The clinical and morphological findings are described in 27 children with nephronophthisis. Seventeen children were considered as sporadic cases. In 10 familial cases the presumed mode of inheritance was autosomal recessive. The clinical picture was rather uniform: polyuria-polydipsia, hyposthenuria, anemia, growth retardation, and azotemia with progressive renal failure. Six patients presented with tapeto-retinal degeneration. In a further seven children other ocular changes were detected. Two female siblings showed additional non-renal manifestations: mental retardation, pulmonary emphysema, skeletal anomalies, and congenital hepatic fibrosis.Renal histology displayed a chronic sclerosing tubulo-interstitial nephropathy with extensive tubular atrophy and dedifferentiation. Medullary cysts were frequently found in end-stage kidneys. Immunofluorescence was either non-specific or completely negative. On electron microscopy, the tubular basement membrane changes predominated: thickening, lamellation, splitting, and deposition of microfibrils within the increased basement membrane substance. Detailed light- and electron microscopic findings were non-specific but the overall morphologic picture was characteristic and even diagnostic in conjunction with the clinical presentation.A recurrence of nephronophthisis in transplanted kidneys has not been observed.The pathogenesis of nephronophthisis is obscure but with respect to the morphologic findings a primary or secondary tubular basement membrane defect seems very likely.Our experience suggests that nephronophthisis is a frequent cause of chronic renal failure in children and commonly associated with non-renal abnormalities. To avoid the separation of different syndromes presenting with a uniform renal disease but various non-renal manifestations, we suggest that the term “nephronopthisis complex” be used. More... »

PAGES

235-254

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00430668

DOI

http://dx.doi.org/10.1007/bf00430668

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1034650665

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7072145


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